Variant #0000494199 (NC_000012.11:g.121426658A>G, HNF1A(NM_000545.5):c.349A>G)

Individual ID 00242233
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.121426658A>G
DNA change (hg38) g.120988855A>G
Published as -
ISCN -
DB-ID HNF1A_000104 See all 6 reported entries
Variant remarks -
Reference PubMed: Ellard 1999.
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Kevin Colclough
Database submission license No license selected
Created by Kevin Colclough
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 +/+ 2 c.349A>G r.(?) p.(Lys117Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000243344 DNA SEQ - - HNF1A 1 Kevin Colclough